Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2F

Kod Orpha: 99940Kod OMIM: 606595

Definicja

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

Dane
Klasyfikacja

Choroba

Synonimy
CMT2F
CMT2F
Kod ORPHA
99940
Kod OMIM
606595
Kod ICD10
G60.0
Kod ICD11
8C20.1

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